We report the conditions of a multiplex-amplifiction refractory mutation system (ARMS) for genotyping for nine assay for the detection of alpha1 Hb J-Oxford and -alpha3.7 -AC. The method is reproducible, reliable, simple, rapid, inexpensive and provides genotype diagnosis in >70% of point-mutation carriers in Mediterranean countries. Moreover, it allows investigation of the structure of mutated alleles by sequencing ARMS-amplicons.

Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation

Lacerra G;Musollino G;Prezioso R;
2007

Abstract

We report the conditions of a multiplex-amplifiction refractory mutation system (ARMS) for genotyping for nine assay for the detection of alpha1 Hb J-Oxford and -alpha3.7 -AC. The method is reproducible, reliable, simple, rapid, inexpensive and provides genotype diagnosis in >70% of point-mutation carriers in Mediterranean countries. Moreover, it allows investigation of the structure of mutated alleles by sequencing ARMS-amplicons.
2007
Istituto di genetica e biofisica "Adriano Buzzati Traverso"- IGB - Sede Napoli
alfa-thalassemia
multiplex-ARMS
genetic variability
microcytic anemias
Hb Sun Prairie
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/38001
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